Results 11 to 20 of about 13,262,735 (197)

NEDD8: A new ataxin-3 interactor [PDF]

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2007
Machado-Joseph disease (MJD/SCA3) is an autosomal dominant neurodegenerative disease caused by the expansion of a CAG tract in the coding portion of the ATXN3 gene. The presence of ubiquitin-positive aggregates of the defective protein in affected neurons is characteristic of this and most of the polyglutamine disorders.
Ferro, Anabela, Carvalho, Ana Luísa, Teixeira-Castro, Andreia, Almeida, Carla, Tomé, Ricardo J., Cortes, Luísa, Rodrigues, Ana-João, Logarinho, Elsa, Sequeiros, Jorge, Macedo-Ribeiro, Sandra, Maciel, Patrícia   +10 more
core   +6 more sources

Gene Expression Profiling in Ataxin-3 Expressing Cell Lines Reveals Distinct Effects of Normal and Mutant Ataxin-3 [PDF]

Journal of Neuropathology & Experimental Neurology, 2003
Spinocerebellar ataxia type 3 (SCA3) is a late-onset neurodegenerative disorder caused by the expansion of a polyglutamine tract within the gene product, ataxin-3. We have previously shown that mutant ataxin-3 causes upregulation of inflammatory genes in transgenic SCA3 cell lines and human SCA3 pontine neurons.
Evert, BO, Vogt, IR, Vieira-Saecker, AM, Ozimek, L, de Vos, RAI, Brunt, ERP, Klockgether, T, Wullner, U   +7 more
core   +5 more sources

Valosin-containing protein (VCP/p97) is an activator of wild-type ataxin-3. [PDF]

PLoS ONE, 2012
Alterations in the ubiquitin-proteasome system (UPS) have been reported in several neurodegenerative disorders characterized by protein misfolding and aggregation, including the polylgutamine diseases.
Mário N Laço, Luisa Cortes, Sue M Travis, Henry L Paulson, A Cristina Rego   +4 more
doaj   +2 more sources

Gastrodin inhibits the formation of ataxin-3 aggregates by regulating the level of ERK1/2/P38 proteins [PDF]

Orphanet Journal of Rare Diseases
Background Spinocerebellar ataxia type 3 (SCA3/Machado-Joseph disease), an incurable autosomal dominant neurodegenerative disorder, is caused by cytotoxic aggregation of polyglutamine-expanded ataxin-3 protein.
Zijian Wang, Xunhao Xiao, Min Wang, Ruitong Cheng, Chan Wang, Yingxun Liu, Fengqin He, Xiaodong Xie   +7 more
doaj   +2 more sources

Cerebellar soluble mutant ataxin-3 level decreases during disease progression in Spinocerebellar Ataxia Type 3 mice. [PDF]

PLoS ONE, 2013
Spinocerebellar Ataxia Type 3 (SCA3), also known as Machado-Joseph disease, is an autosomal dominantly inherited neurodegenerative disease caused by an expanded polyglutamine stretch in the ataxin-3 protein.
Huu Phuc Nguyen, Jeannette Hübener, Jonasz Jeremiasz Weber, Stephan Grueninger, Olaf Riess, Andreas Weiss   +5 more
doaj   +2 more sources

Heterogeneous Intracellular Localization and Expression of Ataxin-3

Neurobiology of Disease, 1998
Spinocerebellar ataxia type 3 or Machado–Joseph disease (SCA3/MJD) is an autosomal dominant neurodegenerative disorder caused by an unstable and expanded CAG trinucleotide repeat that leads to the expansion of a polyglutamine tract in a protein of ...
Yvon Trottier, Géraldine Cancel, Isabelle An-Gourfinkel, Yves Lutz, Chantal Weber, Alexis Brice, Etienne Hirsch, Jean-Louis Mandel   +7 more
doaj   +3 more sources

Physiological and pathophysiological characteristics of ataxin-3 isoforms. [PDF]

J Biol Chem, 2019
Ataxin-3 is a deubiquitinating enzyme and the affected protein in the neurodegenerative disorder Machado-Joseph disease (MJD). The ATXN3 gene is alternatively spliced, resulting in protein isoforms that differ in the number of ubiquitin-interacting motifs.
Weishäupl D, Schneider J, Peixoto Pinheiro B, Ruess C, Dold SM, von Zweydorf F, Gloeckner CJ, Schmidt J, Riess O, Schmidt T.   +9 more
europepmc   +5 more sources

Divalproex sodium modulates nuclear localization of ataxin-3 and prevents cellular toxicity caused by expanded ataxin-3. [PDF]

CNS Neurosci Ther, 2018
SummaryBackground & AimsSpinocerebellar ataxia type 3 (SCA3), also known as Machado‐Joseph disease (MJD), is an autosomal dominantly inherited neurodegenerative disorder and the most common form of SCA worldwide. It is caused by the expansion of a polyglutamine (polyQ) tract in the ataxin‐3 protein. Nuclear localization of the affected protein is a
Wang ZJ, Hanet A, Weishäupl D, Martins IM, Sowa AS, Riess O, Schmidt T.   +6 more
europepmc   +5 more sources

Polyglutamine-expanded ataxin-3 causes cerebellar dysfunction of SCA3 transgenic mice by inducing transcriptional dysregulation

Neurobiology of Disease, 2008
In the present study, we prepared a SCA3 animal model by generating transgenic mice expressing polyglutamine-expanded ataxin-3-Q79. Ataxin-3-Q79 was expressed in brain areas implicated in SCA3 neurodegeneration, including cerebellum, pontine nucleus and ...
An-Hsun Chou, Tu-Hsueh Yeh, Pin Ouyang   +2 more
exaly   +3 more sources

Nucleocytoplasmic shuttling activity of ataxin-3. [PDF]

PLoS ONE, 2009
Spinocerebellar ataxia type-3, also known as Machado-Joseph Disease (MJD), is one of many inherited neurodegenerative disorders caused by polyglutamine-encoding CAG repeat expansions in otherwise unrelated genes.
Sandra Macedo-Ribeiro, Luísa Cortes, Patrícia Maciel, Ana Luísa Carvalho   +3 more
doaj   +6 more sources